Normal levels of soluble transferrin receptor in Friedreich ataxia

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

European journal of medical genetics·2022

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

Reproductive biomedicine online·2019

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Neurogastroenterology and motility·2018

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.

Heart, lung & circulation·2016

A longitudinal study of the SF-36 version 2 in Friedreich ataxia.

Acta neurologica Scandinavica·2016

'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening.

Journal of community genetics·2013

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Normal platelet function in a patient with ARHGEF1 deficiency.

Haematologica·2026

Erratum: Zero-profile interbody fusion in single and two-level anterior cervical discectomy and fusion: a novel surgical system and its indications.

Journal of spine surgery (Hong Kong)·2026

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

HLA·2026

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

CHEST pulmonary·2026

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

Bioengineering (Basel, Switzerland)·2026

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

The Journal of the Association of Physicians of India·2026

Related Experiment Videos

Normal levels of soluble transferrin receptor in Friedreich ataxia

Related Concept Videos

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.

A longitudinal study of the SF-36 version 2 in Friedreich ataxia.

'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Normal platelet function in a patient with ARHGEF1 deficiency.

Erratum: Zero-profile interbody fusion in single and two-level anterior cervical discectomy and fusion: a novel surgical system and its indications.

The Identification of the Novel HLA-B*18:01:01:98 Allele in an Individual From Western India.

A 20-Year-Old Man With Disproportionate Chest Radiograph Abnormality.

RETRACTED: Alam et al. Empirical Study of Autism Spectrum Disorder Diagnosis Using Facial Images by Improved Transfer Learning Approach. Bioengineering 2022, 9, 710.

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Normal levels of soluble transferrin receptor in Friedreich ataxia

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